Dystonia – September is Dystonia Awareness Month

When I first suggested to my friend Bee, (who regular followers will know wrote a guest blog post for me), that I write a piece on Dystonia for Dystonia awareness month, I really thought I understood the condition. You can find Bee’s guest blog post here on Blogger or here on WordPress.

I am not claiming to be a medical expert but I had watched a few documentaries and thought I had my head wrapped around it. I asked Bee to provide me with some good links to sites so that I could complete some research and whilst reading them I realised my so called knowledge was woefully lacking. Yes  I understood that Dystonia at its most basic level is a condition that causes muscle spasms but there is so much more to it than that. I am really pleased that I have educated myself further and learnt more about this little known condition.

Dystonia is the third most diagnosed neurological disorder after Essential Tremor and Parkinson’s Disease yet it remains largely unknown to the general public and medical professionals.This means that many sufferers spend years trying to discover what is happening to them and many are left without a diagnosis. From all the first hand accounts I have read that was the common thread, the sheer length of time it took to obtain the correct diagnosis.

Dystonia is a neurological disorder where the brain sends messages to the muscles that make them contort or spasm uncontrollably. The muscle spasms that affect the sufferers of this condition can be constant or they can come and go.Dystonia can cause an abnormal posture or repetitive movements and can cause sufferers an incredible amount of pain. Like any condition no two patients are the same, so levels of pain varies for each person. Dystonia can affect a person’s speech, eyesight, neck, trunk or limbs. It is a condition that is treatable not curable.

On commencing research for this post I assumed that Dystonia was just one illness however on research I have learnt that simply is not the case and a good source of information on the many different types of the condition can be found at dystonia.org.uk. Having perused a couple of websites for information I think the NHS Choices site is the easiest to understand for absolute beginners which I would class myself as, even though I had heard of the condition.

The most common form of Dystonia according to the NHS Choices website is Focal Dystonia – this is where a single region of the body is affected such as the neck (cervical) or the eyelids (blepharospasms), 90% of sufferers are believed to have this kind of Dystonia. Cervical Dystonia is the kind my guest blogger Bee suffers with and she has kindly agreed to share a bit of her story about how her Dystonia started and how long it took her to be diagnosed.

Bee’s story

Dystonia like other conditions can take years to be diagnosed, which often compounds issues that sufferers are experiencing. One rather significant reason it takes so long to be diagnosed is that many individuals are unaware of what Dystonia is, including General Practitioners and many medical personnel. This often leads to people being undiagnosed or misdiagnosed for many years. As with most medical disorders or diseases treatment in the early stages can be less invasive and more effective. When you are diagnosed late it is as if you are forever playing catch up.

Doctors often tell me that I am a unique and a complex case, which always fills me with joy to know I am so special. My symptoms did not present rapidly or typically like they do in some individuals.Medical opinion states that Dystonia does not progress however in my own case this is not true and from speaking to others with the condition they would refute this also.

Based on my recollection and discussions with my Doctors this is when and how my Dystonia began and progressed. The consensus among the medical professionals that treat me is that it began in my late teens or early twenties. For those of you that read my previous guest blog, I will be 40 soon and was diagnosed at the age of 35.

My symptoms began as chronic headaches, which of course could be attributed to just about anything in the medical world. I felt it was normal for everyone to get headaches on a daily basis. When I was working I would typically develop a headache at approximately 1:00 pm every day. Initially, the opinion was that I was experiencing these headaches due to a cyst in my right sinus.After going to the Ear Nose and Throat Physician and not receiving any definitive news, I figured ok who knows what it is, so it must be fine.

When I was 24 I gave birth to my beautiful son. I had worst neck pain I had ever felt in my life,I attributed it to childbirth and thought no more of it. At the age of 27 I gave birth to my beautiful baby girl. I had extreme headaches, yet again I put this down to childbirth.

Before the age of 27 and I am not sure when I developed a slight tremor in my neck and head. My family were aware of it however I don’t think I truly became aware of it until the age of 27. It was noticed by some but not mentioned by any until later, with one exception. There was an occasion where I was speaking with a man at work and I thought my neck was shaking, at the time I suspected it was because I was nervous or better yet it was in my head and not occurring at all. The next thing I knew the gentleman asked me in a somewhat bold way, “ What is wrong with your neck?” I remembered thinking wow that was sort of rude and I will never forget it as long as I live. I did nothing about it because it wasn’t causing me any pain.


Having spoken to my son about the piece I have written for Rachel, he told me that when he was small he always thought I was shaking my head as if to say “No!” to him. That wasn’t the case it was the Dystonia causing the tremor in my neck muscles making my head move in that way.

When I was 30 we moved to another state and I had quite a bit of anxiety. After much denial I finally went to a Dr. at the urging of my husband. I began taking Lexapro (Escitalopram, an antidepressant), which seemed to help the tremor. Once again I felt the tremor was psychological.

Finally, when I was 35 the headaches would not go away my right arm turned purple and I went to the ER. Additionally I had not felt well overall for a few months, constantly fatigued for no apparent reason. No explanation was ever given by the ER Doctors as to why my arm had gone bright purple and I think I will never know the answer.

I decided at this point that perhaps it would be wise for me to see a Neurologist. I saw a superb neurologist we discussed my headaches I mentioned having a slight tremor. He completed standard neurological testing. Fortunately, he had trained in the area of Dystonia, if not I don’t know that I would have a diagnosis or treatment today. He diagnosed me right away. This took place approximately one month after my ER visit.

In my previous guest blog post I discussed my treatment. As with any chronic illness it is an ongoing ever evolving process. The management of my Dystonia has improved since having the Intrathecal Baclofen pump implanted. I also have Botox injections every 12 weeks to help relax the muscles and prevent spasms.

At present because the pump is a new addition to my management regime my doctors and I are playing with the doses of Baclofen it releases until we work out which dose works best for me.


Before having the Baclofen pump fitted I struggled with moving my head as my neck was continually in spasm. The pump has changed this however on a bad day and unfortunately I never know when they are coming, I can still have problems with moving my neck. Its just with the pump the very bad days are not as common as they were before.


Despite the pump I still suffer with crippling fatigue and I must pace myself during the day. Dystonia has completely changed the way I live my life.


I was greatly relieved when I was given the diagnosis of Dystonia as it explained what was going on with my health. That relief was some what tempered when I began to look into Dystonia and realise that it is treatable but not curable.


That is why it is so important to raise Dystonia’s profile. Had it not been for the fact that I visited a Neurologist that had heard of the condition and had treated others I may still be without a diagnosis. I find this shocking when this is the third most diagnosed Neurological Disorder.



I would like to say an enormous thank you to Bee for providing me with her personal story and helping me put together this blog post to raise awareness of this condition.



Can I ask each and everyone of you who reads this blog post to sign this petition, which is to raise awareness about Dystonia by declaring in the USA September as Dystonia Awareness Month. It just takes a minute or so and even UK residents can sign it, you will just need to verify your email address. Thanks for taking the time to read this post and if you do decide to sign the petition thank you.

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Something different my first ever Guest Blogger – Bee

Please extend a very warm welcome to my first ever guest blogger. Bee has only been following my blog a very short time on my wordpress site http://www.themyastheniakid.com ( I also blog on blogger http://www.themyastheniakid.blogspot.co.uk).

 

I “met” Bee through the comments she regularly writes on my blog posts. Always thoughtful and kind I began to really look forward to what Bee had to say about my latest post. A few days ago I asked Bee if she would do me the honour of being my very first guest blogger and to my delight she agreed.

 

I have been thinking about having guest bloggers on my site for a while now but other than my family and friends there had been no one to ask. Bee’s comments always made me smile and it struck me that she would enjoy the opportunity to share a little piece of her story on my blog.
Bee also suffers with an invisible illness, its called Dystonia. I wont tell you too much about it as I don’t want to spoil what Bee has written.
So in her own words I will hand you over to Bee.

 

Bee’s first Blog Post:

 

Hi,

 

I am Bee, which is my nickname. I am a 39 year old,wife, Mother of a 12 year old daughter and 15 year old son. I am quickly encroaching on 40 years old,  which my son loves to remind me of as often as possible.

 

I was diagnosed with a Neurological Movement Disorder, Cervical Dystonia also known as Spasmodic Torticollis in October of 2009.

 

I had headaches for approximately 10 years, before I was finally prompted to go to a neurologist in 2009. Fortunately the neurologist I saw had trained in the area of Dystonia. I was so fortunate to see him because it often goes undiagnosed or is misdiagnosed. He was wonderful in every sense of the word. I will always be grateful for his kindness, professionalism, and collaborative approach to my care. I was relieved to know why I had headaches but I did not know what was in store for me in the upcoming years.

 

The definition of Dystonia provided by the Dystonia Medical Research Foundation:

Dystonia is characterized by persistent or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. The movements are usually patterned and twisting, and may resemble a tremor. Dystonia is often initiated or worsened by voluntary movements, and symptoms may “overflow” into adjacent muscles. Dystonia is classified by: 1. clinical characteristics (including age of onset, body distribution, nature of the symptoms, and associated features such as additional movement disorders or neurological symptoms) and 2. Cause (which includes changes or damage to the nervous system and inheritance). Doctors use these classifications to guide diagnosis and treatment.

 

We know where mine is located in my body but we don’t know the age of onset, or the etiology. I have had genetic testing but it didn’t reveal any insight.

 

I would like to share a little bit about my treatment and how it has impacted my life, as well as, my family’s. Hopefully I can provide you with a part of my journey without boring you to tears. First and foremost, I realize that I am fortunate because I know many others suffer far more than I do.

 

Of course I have been told that I am a complex case and not the standard kind. That pretty much describes me in general, so that works out perfectly. I do not twist or tilt to a particular side like many people with Dystonia do. I am more or less in somewhat of a stuck position. So to many I don’t appear sick, it is another “invisible illness”.

 

So onwards to the very thrilling aspects of my treatment that have taken place over the last few years. I began with oral medication, which did not work well with for me. I was so tired and impacted by the side effects. I moved on to Botox injections, not for vanity or cosmetic purposes. Botox is a toxin, which paralyzes the muscles, it comes from the Clostridium Botulinum bacterium .

 

I began with 100 units of botox (given to me via injections). I gradually moved up to 200 units and not forgetting to mention I still remain on oral medications.

 

I often hope I am trading one treatment for another. I have been strongly mistaken in ever thinking one treatment would replace another or that one treatment would magically be the cure. Dystonia is an incurable condition, Drs like to call this a “treatable condition”.

 

The last time I moved the part of my body affected by Dystonia, it was almost two years ago.

 

Since that point my treatment has changed quite significantly. The amount of botox I receive began to be steadily increased. I now receive 400 units of botox. Just to put that in perspective when people get botox for frown lines etc. the dosage is typically somewhere around 10- 20 units.

 

During this time frame I also began taking the oral medication Baclofen, which is a muscle relaxant. I am now jumping forwards in time… Because my Baclofen was continuing to be increased orally and the side effects impacted my daily functioning, I have since had the Intrathecal Baclofen Pump implanted.

 

I have a device the size of a hockey puck in my stomach and a catheter in my spine that administers medication continuously as well as additional boluses in 4 hour intervals. The side effects are supposed to be decreased because the dosage is much lower due to the way the drug is administered. At this point adjusting the dosage is ongoing as we try to reach the right dose for me.

 

Additionally I am now up to 500 units of botox for Dystonia as well as Migraines. My Migraines were initially diagnosed as chronic daily headaches. It has been almost 8 weeks since I had the Baclofen Pump surgery. So as I said earlier I continue to add treatments in the of hope of limiting other medications. As of yet this has not happened, we will see what the future holds.

 

Now that I have entertained you beyond words with my abridged medical treatment I will provide you with a quick summary of the impact on my family!

 

As a mom I feel much guilt, as there are many negative ways my condition has impacted my children. They have had to live through the side effects of numerous medication changes.

 

When our daughter was about 9 years old she saw a commercial for a medication that was the worst one I was ever on. She held her fingers up in an X, I quickly knew that medication changes were not a joyride for myself or my family.

 

I could tell you many more stories about medications but I will spare you the excitement.

 

I worked at the beginning of my diagnosis but was so tired from the pain and the medications I was on. I had to stop working, which I have found very difficult to deal with emotionally.

 

Fortunately I have a rather angelic husband, that not only loves me but also tolerates my craziness. He does the things with my children that I can no longer do. I often ask my children if they remember the many things I used to do with them.

 

On a positive and very proud note our children have grown up to be very compassionate and understanding. They are always thinking about whether or not it is in my best interest to attend activities, based on my comfort, the length of time etc. They are helpful, loving and kind. Of course I still feel guilty but believe that Dystonia has had a role in shaping their wonderful personalities.

 

I could continue to go on and on about my experiences. Perhaps I will be featured another time on Rach’s blog.

 

Thank you so much for the opportunity. 🙂

 

Best Wishes to everyone.
Many thanks go to Bee who was kind enough to share her story with us. I have added some links in case anyone wants to understand in greater detail some of the issues discussed by Bee in her blog post.
Dystonia

 

Botox

 

Baclofen

 

Baclofen Pump